Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants.
case_series · Level IV
Where this comes from
- Record sourced from PubMed, PMID 41530952.
- Also identified by DOI 10.1093/bjd/ljag006 and PMC identifier 13017155.
- No licence information is recorded for this record.
- Because redistribution is not established, this page shows the abstract only. Follow the links below for the full text.
Abstract
We describe three kindreds with progressive symmetrical erythrokeratoderma associated with recessive <i>PNPLA1</i> variants, expanding the clinical spectrum of patatin-like phospholipase domain-containing protein 1 (PNPLA1)-related epidermal differentiation disorders. Affected individuals exhibited distinctive symmetrical plaques with patterned sparing, contrasting with the generalized scaling typical of <i>PNPLA1</i>-associated autosomal recessive congenital ichthyosis. These findings highlight genotype–phenotype variability within PNPLA1 disease and support a role for lipid pathway-specific modifiers in shaping epidermal differentiation disorder phenotypes.